Canonical Allele Identifier: CA578646198

Gene:

Linked Data

• dbSNP Id: rs1188562511
• gnomAD v2: 7-148504323-CAT-C
• gnomAD v3: 7-148807231-CAT-C
• gnomAD v4: 7-148807231-CAT-C
• MyVariant Identifiers: chr7:g.148504324_148504325del (hg19) ; chr7:g.148807232_148807233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807236_148807237del , CM000669.2:g.148807236_148807237del	GRCh38
NC_000007.13:g.148504328_148504329del , CM000669.1:g.148504328_148504329del	GRCh37
NC_000007.12:g.148135261_148135262del	NCBI36
NG_032043.1:g.82117_82118del , LRG_531:g.82117_82118del

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2151_515+2152del
XR_928102.1:n.722+2151_722+2152del